5q35 copy number variation (WP5380)

Homo sapiens

A deletion in the chromosomal region 5q35 can cause the rare genetic disorder Sotos syndrome. Sotos syndrome is characterised by psychiatric disorders (autism, intellectual disability, developmental delay) and excessive growth. Also, duplication of 5q35 have been recorded.

Authors

Ewoud , Egon Willighagen , Friederike Ehrhart , Alex Pico , and Kristina Hanspers

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

disease pathway

Disease Ontology

Sotos syndrome

Participants

Label Type Compact URI Comment
Phosphatidylinositol 4,5-bisphosphate Metabolite chebi:18348
dsDNA Metabolite chebi:4705
Phosphatidylinositol 3-phosphate Metabolite chebi:26034
D-fructose-6-phosphate Metabolite wikidata:Q32039197
D-glucose 6-phosphate Metabolite chebi:4170
6-Hydroxydopamine Metabolite chebi:78741
Polyproline Metabolite chebi:8321
cardiolipins Metabolite chebi:28494
RNA Metabolite chebi:33697
D-glucose Metabolite chebi:17634
O3-(β-D-xylosyl)-L-serine residue Metabolite chebi:132085
Phosphate Metabolite chebi:43474
D-fructose Metabolite chebi:15824
UDP-α-D-galactose Metabolite chebi:66914
Phosphatidylinositol 4-phosphate Metabolite chebi:17526
UDP Metabolite chebi:58223
O3-(4-β-D-galactosyl-β-D-xylosyl)-L-serine residue Metabolite chebi:132088
High-mannose N-glycan group Metabolite chebi:156208
phosphatidic acids Metabolite chebi:16337
N-acetyl-D-galactosamine Metabolite chebi:28037
O-glycans Metabolite chebi:59521
Inositol 1,4,5-trisphosphate Metabolite chebi:16595
Diacylglycerol Metabolite hmdb:HMDB0242173
Ca2+ Metabolite chebi:29108
Staurosporine Metabolite chebi:57491
phosphatidic acids Metabolite chebi:16337
phosphatidic acids Metabolite chebi:16337
Na+ Metabolite chebi:29101
Phosphate Metabolite chebi:43474
Na+ Metabolite chebi:29101
MIR1271 GeneProduct ensembl:ENSG00000221464
PDLIM7 GeneProduct ensembl:ENSG00000196923
PTPRN2 GeneProduct ensembl:ENSG00000155093
DOK3 GeneProduct ensembl:ENSG00000146094
TMED9 GeneProduct ensembl:ENSG00000184840
COX5B GeneProduct ensembl:ENSG00000135940
PRELID1 GeneProduct ensembl:ENSG00000169230
MT-CO1 GeneProduct ensembl:ENSG00000198804
HIGD2A GeneProduct ensembl:ENSG00000146066
NSD1 GeneProduct ensembl:ENSG00000165671
F12 GeneProduct ensembl:ENSG00000131187
PRR7 GeneProduct ensembl:ENSG00000131188
MAGED1 GeneProduct ensembl:ENSG00000179222
SRC GeneProduct ensembl:ENSG00000197122
BABAM2 GeneProduct ensembl:ENSG00000158019
HIC2 GeneProduct ensembl:ENSG00000169635
UNC5A GeneProduct ensembl:ENSG00000113763
FAF2 GeneProduct ensembl:ENSG00000113194
MAX GeneProduct ensembl:ENSG00000125952
LMAN2 GeneProduct ensembl:ENSG00000169223
MIR4281 GeneProduct ensembl:ENSG00000266329
SNCA GeneProduct ensembl:ENSG00000145335
FRS2 GeneProduct ensembl:ENSG00000166225
COX5A GeneProduct ensembl:ENSG00000178741
ANKS4B GeneProduct ensembl:ENSG00000175311
GRIN1 GeneProduct ensembl:ENSG00000176884
HIP1 GeneProduct ensembl:ENSG00000127946
SLC34A1 GeneProduct ensembl:ENSG00000131183
ZNF346 GeneProduct ensembl:ENSG00000113761
MYC GeneProduct ensembl:ENSG00000136997
SNCB GeneProduct ensembl:ENSG00000074317
TPM2 GeneProduct ensembl:ENSG00000198467
RAB24 GeneProduct ensembl:ENSG00000169228
PTH GeneProduct ensembl:ENSG00000152266
COX6A1 GeneProduct ensembl:ENSG00000111775
TSPAN17 GeneProduct ensembl:ENSG00000048140
KIAA1191 GeneProduct ensembl:ENSG00000122203
FGF1 GeneProduct ensembl:ENSG00000113578
BRCA1 GeneProduct ensembl:ENSG00000012048
COX7A1 GeneProduct ensembl:ENSG00000161281
JUN GeneProduct ensembl:ENSG00000177606
PLCG1 GeneProduct ensembl:ENSG00000124181
B4GALT7 GeneProduct ensembl:ENSG00000027847
PTPN2 GeneProduct ensembl:ENSG00000175354
GNAI3 GeneProduct ensembl:ENSG00000065135
TMED10 GeneProduct ensembl:ENSG00000170348
NELFB GeneProduct ensembl:ENSG00000188986
ABHD5 GeneProduct ensembl:ENSG00000011198
COX8A GeneProduct ensembl:ENSG00000176340
FGFR4 GeneProduct ensembl:ENSG00000160867
DRD2 GeneProduct ensembl:ENSG00000149295
GNAI2 GeneProduct ensembl:ENSG00000114353
COX4I1 GeneProduct ensembl:ENSG00000131143
Histone 3 GeneProduct ensembl:ENSG00000163041
ABRAXAS1 GeneProduct ensembl:ENSG00000163322
MAPK9 GeneProduct ensembl:ENSG00000050748
DBN1 GeneProduct ensembl:ENSG00000113758
KDM6B GeneProduct ensembl:ENSG00000132510 JMJD3
FAM193B GeneProduct ensembl:ENSG00000146067
GPRIN1 GeneProduct ensembl:ENSG00000169258
IGF1R GeneProduct ensembl:ENSG00000140443
MAPK10 GeneProduct ensembl:ENSG00000109339
BRCC3 GeneProduct ensembl:ENSG00000185515
DDX41 GeneProduct ensembl:ENSG00000183258
GRB2 GeneProduct ensembl:ENSG00000177885
USH1C GeneProduct ensembl:ENSG00000006611
CDHR5 GeneProduct ensembl:ENSG00000099834
TMED2 GeneProduct ensembl:ENSG00000086598
GRIN2B GeneProduct ensembl:ENSG00000273079
ARL10 GeneProduct ensembl:ENSG00000175414
NOP16 GeneProduct ensembl:ENSG00000048162
PFN3 GeneProduct ensembl:ENSG00000196570
COX7C GeneProduct ensembl:ENSG00000127184
SOS1 GeneProduct ensembl:ENSG00000115904
PIK3R1 GeneProduct ensembl:ENSG00000145675
F-Actin GeneProduct pfam:PF00022
MT-CO3 GeneProduct ensembl:ENSG00000198938
FBXW7 GeneProduct ensembl:ENSG00000109670
H2AX GeneProduct ensembl:ENSG00000188486
HK3 GeneProduct ensembl:ENSG00000160883
SIMC1 GeneProduct ensembl:ENSG00000170085
GAB1 GeneProduct ensembl:ENSG00000109458
Actin GeneProduct rfam:PF00022
ABL1 GeneProduct ensembl:ENSG00000097007
NTN1 GeneProduct ensembl:ENSG00000065320
BARD1 GeneProduct ensembl:ENSG00000138376
ARFGAP2 GeneProduct ensembl:ENSG00000149182
FGF19 GeneProduct ensembl:ENSG00000162344
UIMC1 GeneProduct ensembl:ENSG00000087206
GRK6 GeneProduct ensembl:ENSG00000198055
RNF44 GeneProduct ensembl:ENSG00000146083
EIF4E1B GeneProduct ensembl:ENSG00000175766
RGS14 GeneProduct ensembl:ENSG00000169220
CXCR4 GeneProduct ensembl:ENSG00000121966
MYO7B GeneProduct ensembl:ENSG00000169994
TRIAP1 GeneProduct ensembl:ENSG00000170855
PNPLA2 GeneProduct ensembl:ENSG00000177666
COX6B1 GeneProduct ensembl:ENSG00000126267
MAPK8 GeneProduct ensembl:ENSG00000107643
MXD3 GeneProduct ensembl:ENSG00000213347
GNAI1 GeneProduct ensembl:ENSG00000127955
HIP1R GeneProduct ensembl:ENSG00000130787
COX6C GeneProduct ensembl:ENSG00000164919
CYP7A1 GeneProduct ensembl:ENSG00000167910
MT-CO2 GeneProduct ensembl:ENSG00000198712
INPP5D GeneProduct ensembl:ENSG00000168918
CLTB GeneProduct ensembl:ENSG00000175416
BABAM1 GeneProduct ensembl:ENSG00000105393
COX7B GeneProduct ensembl:ENSG00000131174
CAPN3 GeneProduct ensembl:ENSG00000092529
EED GeneProduct ensembl:ENSG00000074266
RN7SL684P GeneProduct ensembl:ENSG00000243959
CDHR5 GeneProduct ensembl:ENSG00000099834
ADAM10 GeneProduct ensembl:ENSG00000137845
HIGD2A GeneProduct ensembl:ENSG00000146066
CDHR2 GeneProduct ensembl:ENSG00000074276
CDHR2 GeneProduct ensembl:ENSG00000074276
FRS2 GeneProduct ensembl:ENSG00000166225
PLCG1 GeneProduct ensembl:ENSG00000124181
Histone 3 GeneProduct ensembl:ENSG00000163041
PRELID1 GeneProduct ensembl:ENSG00000169230
GNAI3 GeneProduct ensembl:ENSG00000065135
JUN GeneProduct ensembl:ENSG00000177606
JUN GeneProduct ensembl:ENSG00000177606
JUN GeneProduct ensembl:ENSG00000177606
UIMC1 GeneProduct ensembl:ENSG00000087206
PRR7 GeneProduct ensembl:ENSG00000131188
PRR7 GeneProduct ensembl:ENSG00000131188

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